Editorial
Published on 12 Dec 2023
Editorial: Otitis media susceptibility due to genetic variants
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1341669
- 975 views
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1,834 articles
Systematic Review
Published on 11 Dec 2023
Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1291719
- 2,183 views
- 2 citations
Case Report
Published on 11 Dec 2023
Case report: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1258293
- 1,986 views
Editorial
Published on 05 Dec 2023
Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1338078
- 1,831 views
- 2 citations
Original Research
Published on 01 Dec 2023
Carrier frequency and incidence of alpha-mannosidosis: population database-based study—focus on the East Asian and Korean population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1297543
- 2,700 views
- 1 citation
Brief Research Report
Published on 30 Nov 2023
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1278572
- 2,275 views
- 6 citations
Case Report
Published on 30 Nov 2023
Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1289312
- 3,715 views
Original Research
Published on 27 Nov 2023
Molecular characterization of novel and rare DNA variants in patients with galactosemia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1266353
- 1,893 views
Original Research
Published on 23 Nov 2023
Association of SDF-1 and its receptor CXCR4 polymorphisms on the susceptibility of diabetic retinopathy in the Taiwanese population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1296773
- 1,532 views
- 3 citations
Case Report
Published on 23 Nov 2023
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1276697
- 2,902 views
- 2 citations
Original Research
Published on 23 Nov 2023
A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1248358
- 1,636 views
- 3 citations
Original Research
Published on 22 Nov 2023
Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu)
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1264237
- 2,817 views
Case Report
Published on 20 Nov 2023
Chronic systemic capillary leak syndrome with lymphatic capillaries involvement and MYOF mutation: case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1282711
- 2,677 views
- 1 citation
Original Research
Published on 20 Nov 2023
Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1291472
- 2,130 views
- 1 citation
Original Research
Published on 15 Nov 2023
Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1258752
- 3,169 views
- 2 citations
Systematic Review
Published on 15 Nov 2023
Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1247557
- 3,272 views
- 6 citations